Variant report

Variant	nsv481885
Chromosome Location	chrX:32720017-32921953
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chrX:32843903-32844119	IMR90	lung:	n/a	n/a
2	CEBPB	chrX:32865997-32866399	Hela-S3	cervix:	n/a	chrX:32866223-32866234
3	CEBPB	chrX:32831465-32831687	HepG2	liver:	n/a	n/a
4	CEBPB	chrX:32895778-32896050	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chrX:32772797-32772997	A549	lung:	n/a	chrX:32772894-32772905 chrX:32772892-32772909 chrX:32772893-32772906 chrX:32772893-32772904 chrX:32772893-32772906
6	CEBPB	chrX:32889603-32889915	Hela-S3	cervix:	n/a	chrX:32889745-32889758
7	CEBPB	chrX:32766919-32767531	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chrX:32886639-32886884	HepG2	liver:	n/a	chrX:32886759-32886770
9	CEBPB	chrX:32831425-32831725	IMR90	lung:	n/a	n/a
10	CEBPB	chrX:32772781-32773048	IMR90	lung:	n/a	chrX:32772894-32772905 chrX:32772892-32772909 chrX:32772893-32772906 chrX:32772893-32772904 chrX:32772893-32772906 chrX:32773000-32773017
11	CEBPB	chrX:32866060-32866260	HepG2	liver:	n/a	chrX:32866223-32866234
12	CEBPB	chrX:32889591-32889922	IMR90	lung:	n/a	chrX:32889745-32889758
13	CEBPB	chrX:32899394-32899507	K562	blood:	n/a	chrX:32899493-32899506 chrX:32899408-32899420 chrX:32899495-32899504 chrX:32899495-32899504 chrX:32899495-32899504
14	CEBPB	chrX:32869772-32869902	A549	lung:	n/a	n/a
15	CEBPB	chrX:32898887-32899628	IMR90	lung:	n/a	chrX:32899493-32899506 chrX:32899408-32899420 chrX:32899495-32899504 chrX:32899495-32899504 chrX:32899495-32899504
16	CEBPB	chrX:32772748-32773051	HepG2	liver:	n/a	chrX:32772894-32772905 chrX:32772892-32772909 chrX:32772893-32772906 chrX:32772893-32772904 chrX:32772893-32772906 chrX:32773000-32773017
17	CTCF	chrX:32742733-32742808	GM10248	blood:	n/a	n/a
18	CTCF	chrX:32860220-32860273	GM10248	blood:	n/a	n/a
19	CTCF	chrX:32794104-32794151	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chrX:32916838-32916881	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chrX:32760464-32760509	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chrX:32797150-32797429	GM12878	blood:	n/a	chrX:32797392-32797400
23	CTCF	chrX:32778746-32778761	GM10248	blood:	n/a	n/a
24	CTCF	chrX:32842378-32842473	Pancreas_OC	pancreas:	n/a	n/a
25	CTCF	chrX:32792704-32792717	HepG2	liver:	n/a	n/a
26	CTCF	chrX:32786375-32786459	GM20000	blood:	n/a	n/a
27	CTCF	chrX:32792600-32792750	BE2_C	brain:	n/a	n/a
28	CTCF	chrX:32797253-32797345	IMR90	lung:	n/a	n/a
29	CTCF	chrX:32780790-32780863	GM20000	blood:	n/a	n/a
30	CTCF	chrX:32738407-32738465	GM10248	blood:	n/a	n/a
31	CTCF	chrX:32818692-32818774	GM20000	blood:	n/a	n/a
32	CTCF	chrX:32838926-32839006	GM20000	blood:	n/a	n/a
33	CTCF	chrX:32792641-32792723	LNCaP	prostate:	n/a	n/a
34	CTCF	chrX:32757629-32757691	LNCaP	prostate:	n/a	n/a
35	CTCF	chrX:32831104-32831171	GM10266	blood:	n/a	n/a
36	CTCF	chrX:32771076-32771134	GM10248	blood:	n/a	n/a
37	CTCF	chrX:32770543-32770629	GM10266	blood:	n/a	n/a
38	CTCF	chrX:32797240-32797312	Hela-S3	cervix:	n/a	n/a
39	CTCF	chrX:32884334-32884373	GM20000	blood:	n/a	n/a
40	CTCF	chrX:32886740-32886890	HepG2	liver:	n/a	n/a
41	CTCF	chrX:32875890-32875982	LNCaP	prostate:	n/a	n/a
42	CTCF	chrX:32831204-32831236	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chrX:32912058-32912116	GM10248	blood:	n/a	n/a
44	CTCF	chrX:32872240-32872390	HEK293	kidney:	n/a	n/a
45	CTCF	chrX:32857512-32857571	GM10248	blood:	n/a	n/a
46	CTCF	chrX:32839079-32839102	Pancreas_OC	pancreas:	n/a	n/a
47	CTCF	chrX:32916844-32916890	MCF-7	breast:	n/a	n/a
48	CTCF	chrX:32830617-32830700	GM20000	blood:	n/a	n/a
49	CTCF	chrX:32916760-32916910	HEK293	kidney:	n/a	n/a
50	CTCF	chrX:32792620-32792770	SAEC	small airway:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chrX:32830005-32830055	IMR90	lung:	fetal
2	chrX:32886526-32886576	SK-N-SH_RA	brain:	n/a
3	chrX:32830005-32830055	HIPEpiC	eye:	n/a
4	chrX:32830005-32830055	BE2_C	brain:	n/a
5	chrX:32886526-32886576	PrEC	prostate:	n/a
6	chrX:32886461-32886511	NHBE	bronchial:	n/a
7	chrX:32886461-32886511	HCT-116	colon:	n/a
8	chrX:32830005-32830055	ECC-1	luminal epithelium:	n/a
9	chrX:32886461-32886511	HCF	heart:	n/a
10	chrX:32830005-32830055	HAEpiC	amniotic membrane:	n/a
11	chrX:32830005-32830055	ProgFib	skin:	n/a
12	chrX:32886461-32886511	HRE	kidney:	n/a
13	chrX:32886461-32886511	AoSMC	blood vessel:	n/a
14	chrX:32886461-32886511	Jurkat	blood:	n/a
15	chrX:32886526-32886576	U87	brain:	n/a
16	chrX:32886526-32886576	GM06990	blood:	n/a
17	chrX:32830005-32830055	SK-N-SH	brain:	n/a
18	chrX:32886526-32886576	HEK293	kidney:	embryo
19	chrX:32886461-32886511	SAEC	small airway:	n/a
20	chrX:32886461-32886511	LNCaP	prostate:	n/a
21	chrX:32886461-32886511	AG10803	skin:	n/a
22	chrX:32830005-32830055	AoSMC	blood vessel:	n/a
23	chrX:32886526-32886576	K562	blood:	n/a
24	chrX:32886461-32886511	T-47D	breast:	n/a
25	chrX:32830005-32830055	SKMC	muscle:	n/a
26	chrX:32886526-32886576	ovcar-3	ovarian:	n/a
27	chrX:32886461-32886511	HL-60	blood:	n/a
28	chrX:32886526-32886576	Caco-2	colon:	n/a
29	chrX:32886526-32886576	HCT-116	colon:	n/a
30	chrX:32830005-32830055	Hepatocyte	liver:	n/a
31	chrX:32886526-32886576	HMEC	breast:	n/a
32	chrX:32886461-32886511	CMK	blood:	n/a
33	chrX:32830005-32830055	Jurkat	blood:	n/a
34	chrX:32830005-32830055	HRPEpiC	eye:	n/a
35	chrX:32830005-32830055	GM12891	blood:	n/a
36	chrX:32886526-32886576	GM12878	blood:	n/a
37	chrX:32886526-32886576	PFSK-1	brain:	n/a
38	chrX:32830005-32830055	HPAEpiC	pulmonary alveolar:	n/a
39	chrX:32830005-32830055	PrEC	prostate:	n/a
40	chrX:32886526-32886576	SK-N-SH	brain:	n/a
41	chrX:32886526-32886576	MCF-7	breast:	n/a
42	chrX:32886461-32886511	AG09319	gingival:	n/a
43	chrX:32886461-32886511	A549	lung:	n/a
44	chrX:32886461-32886511	IMR90	lung:	fetal
45	chrX:32830005-32830055	AG04449	skin:	fetal
46	chrX:32830005-32830055	CMK	blood:	n/a
47	chrX:32830005-32830055	HL-60	blood:	n/a
48	chrX:32886526-32886576	PANC-1	pancreas:	n/a
49	chrX:32830005-32830055	NHBE	bronchial:	n/a
50	chrX:32886526-32886576	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chrX:32730300..32733184-chrX:32737729..32739420,3	K562	blood:
2	chrX:32730300..32733184-chrX:32737729..32739420,3	K562	blood:
3	chrX:32796881..32797760-chrX:33354782..33355607,2	MCF-7	breast:
4	chr17:2781701..2782584-chrX:32736765..32737525,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GK-5	chrX:32773057-32773106	ENSG00000236828.1
2	lnc-GK-5	chrX:32774275-32774517	ENSG00000236828.1

Variant related genes	Relation type
DMD	TF binding region
DMD-AS3	TF binding region
ENSG00000238969	TF binding region
DMD	CpG island
DMD-AS3	CpG island
ENSG00000238969	CpG island

Extended variants
information (count: 3448 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:3448 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369210089	chrX:32720116-32720117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181512692	chrX:32720198-32720199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58367477	chrX:32720226-32720227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184471983	chrX:32720250-32720251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530629671	chrX:32720260-32720261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189618537	chrX:32720278-32720279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182383000	chrX:32720480-32720481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185962144	chrX:32720485-32720486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190865296	chrX:32720504-32720505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139743405	chrX:32720564-32720565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181325084	chrX:32720718-32720719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185345168	chrX:32720773-32720774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190009920	chrX:32720786-32720787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183011883	chrX:32720913-32720914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149803649	chrX:32720927-32720928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187345631	chrX:32721002-32721003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73209880	chrX:32721015-32721016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375278661	chrX:32721019-32721020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145676699	chrX:32721068-32721069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548624211	chrX:32721205-32721206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148509905	chrX:32721248-32721249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116168744	chrX:32721264-32721265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147653248	chrX:32721328-32721329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142147404	chrX:32721329-32721330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191082495	chrX:32721345-32721346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6631633	chrX:32721346-32721347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534444992	chrX:32721376-32721377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183872734	chrX:32721401-32721402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73456983	chrX:32721456-32721457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs3838947	chrX:32721469-32721470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113397607	chrX:32721526-32721527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150326416	chrX:32721535-32721536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187631159	chrX:32721547-32721548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192593322	chrX:32721587-32721588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35242230	chrX:32721596-32721597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184864678	chrX:32721657-32721658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557378854	chrX:32721687-32721688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372649770	chrX:32721688-32721689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60343665	chrX:32721958-32721959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112065013	chrX:32722096-32722097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187302518	chrX:32722175-32722176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191747053	chrX:32722185-32722186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184710781	chrX:32722246-32722247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7884794	chrX:32722314-32722315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374096869	chrX:32722336-32722337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6628730	chrX:32722337-32722338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182154944	chrX:32722358-32722359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7884929	chrX:32722367-32722368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs562574732	chrX:32722415-32722416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185541676	chrX:32722417-32722418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Cancer	16751803	CNVD
Intellectual disability	23615299	CNVD
Neuroblastoma	18923191	CNVD
Burkitt''s lymphoma	20823134	CNVD
Astrocytoma	17387387	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	21979893	CNVD
Schizophrenia	23904455	CNVD
Olfactory neuroblastoma	18408657	CNVD
infertile	22614455	CNVD
Acute myeloid leukemia	20729466	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute myeloid leukemia	21251322	CNVD
Cancer	20581869	CNVD
Multiple myeloma	20724749	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Premature ovarian failure	20952765	CNVD
Ovarian cancer	19835627	CNVD
Cerebellar hypoplasia	21569638	CNVD
X-linked lissencephaly	21569638	CNVD
Thyroid cancer	19087340	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17406619	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Gastric cancer	17229543	CNVD
Type 2 diabetes	21760887	CNVD
Cardiomyopathy	22138850	CNVD
Muscular dystrophy	21149563	CNVD
Skeletal myopathy	22138850	CNVD
Autism	21484199	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Duchenne-like muscular dystrophy	22138850	CNVD
Muscular dystrophy	22138850	CNVD
Disease	22090376	CNVD
Colorectal cancer	21645411	CNVD
Ornithine transcarbamylase deficiency	21467225	CNVD
Myxofibrosarcoma	16751306	CNVD
Alcoholism	21790672	CNVD
Chronic granulomatous disease	22383943	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Duchenne and Becker muscular dystrophies	18663755	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:32709200-32723600	Weak transcription	Left Ventricle	heart
2	chrX:32710400-32726200	Weak transcription	HSMMtube	muscle
3	chrX:32716000-32721000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chrX:32723600-32723800	Enhancers	Left Ventricle	heart
5	chrX:32725000-32726400	Weak transcription	Right Atrium	heart
6	chrX:32725400-32726200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chrX:32725400-32726200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chrX:32725400-32727600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chrX:32725800-32726200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chrX:32726200-32727000	Enhancers	HSMMtube	muscle
11	chrX:32726200-32727600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chrX:32726800-32727000	Enhancers	Right Atrium	heart
13	chrX:32727600-32728400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chrX:32727600-32729200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chrX:32728400-32728600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chrX:32728600-32729000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chrX:32729000-32729400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chrX:32739000-32739800	Enhancers	Fetal Heart	heart
19	chrX:32757200-32757400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chrX:32757200-32760200	Weak transcription	Fetal Heart	heart
21	chrX:32757400-32763200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chrX:32760200-32760400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chrX:32760200-32760600	Enhancers	Fetal Heart	heart
24	chrX:32760400-32762400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chrX:32760600-32762400	Weak transcription	Fetal Heart	heart
26	chrX:32760600-32768800	Weak transcription	Left Ventricle	heart
27	chrX:32762400-32764800	Enhancers	Fetal Heart	heart
28	chrX:32762800-32763800	Enhancers	Muscle Satellite Cultured Cells	--
29	chrX:32763200-32764400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chrX:32764800-32766800	Weak transcription	Fetal Heart	heart
31	chrX:32766800-32769000	Enhancers	Fetal Heart	heart
32	chrX:32767200-32768000	Enhancers	HUVEC	blood vessel
33	chrX:32769000-32769200	Enhancers	Left Ventricle	heart
34	chrX:32769000-32770600	Weak transcription	Fetal Heart	heart
35	chrX:32770600-32770800	Enhancers	Fetal Heart	heart
36	chrX:32788200-32788600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chrX:32792800-32793600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chrX:32793400-32793800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
39	chrX:32793800-32795600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chrX:32794800-32795200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chrX:32795000-32797400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chrX:32795600-32797000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chrX:32795600-32797000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chrX:32795600-32797200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chrX:32795800-32797400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chrX:32796000-32796400	Enhancers	H1 Cell Line	embryonic stem cell
47	chrX:32797400-32804400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chrX:32804200-32804400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chrX:32804400-32805200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chrX:32804400-32805400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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